Thrombophillia

Question 1

Types of Clots

Answer 1

White Thrombus: arterial thrombi, see in ishemic stroke, acute coronary syndrome, CHD, peripheral artery disease
Red Thrombus: venous thrombi, most common in lower limbs
Emolism: moving thrombus
Thromboembolism: blood flow obstructed by an embolism originating from a thrombus

Question 2

Factor V Leiden

Answer 2

Caused by a point mutation in factor V
Arginine 506 to glycine
Alters the site where activated protein C would cleave factor V
Treat symptoms

Question 3

Protein C Deficiency

Answer 3

Treat symptomatic patients with heparin and then oral anticoagulation
Heterozygous patients who are given warfarin may develop skin necrosis due to a transient hypercoagulable state
APC sensitivity ratio = (PTT + APC)/PTT

Question 4

Protein S Deficiency

Answer 4

Protein S is usually 60% bound, 40% free
Type I: decreased total protein S, free protein S, protein S activity
Type II: normal total protein S and free protein S, decreased activity
Type III: normal total protein S, decreased free protein S and activity
Use heparin if patient is symptomatic and transition to oral anticoagulation

Question 5

Antithrombin Deficiency

Answer 5

Antithrombin inhibits thrombin and all of the other serine proteases in the coagulation cascade
2 subgroups, measure factor inhibition with and without heparin
Treat with high dose heparin or warfarin

Question 6

Prothrombin 20210

Answer 6

Caused by a G to A mutation in nucleotide 20210 of prothrombin
Found in the 3’ UTR (untranslated) region
Treat with prophylactic anticoagulation for homozygous mutation